Late-onset vanishing white matter disease: clinical and genotypic insights from the oldest reported patient

Vanishing white matter disease (VWMD) is typically diagnosed in childhood or early adulthood. Here, we report a case of a woman in her early 70s presenting with new-onset seizures and rapidly progressive cognitive and motor decline. Brain MRI revealed diffuse white matter rarefaction with cystic degeneration, and genetic testing identified compound heterozygosity in the EIF2B5 gene (p.Arg113His and p.Met305Leu), confirming the diagnosis. The delayed presentation may reflect a milder genotype-phenotype correlation, offering insight into the variability of disease expression. This case also reinforces the importance of considering genetic leucoencephalopathies in older adults with unexplained white matter abnormalities and highlights the role of neuroimaging and genetic testing in reaching a definitive diagnosis.